Canonical Allele Identifier: CA14118725
Community Standard Title: NM_130810.4(DNAAF4):c.123+95C>A
Gene: DNAAF4 HGNC NCBI
DNAAF4-CCPG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.55498112G>T , CM000677.2:g.55498112G>T GRCh38
NC_000015.9:g.55790310G>T , CM000677.1:g.55790310G>T GRCh37
NC_000015.8:g.53577602G>T NCBI36
NG_021213.1:g.15123C>A

Transcript Alleles

HGVS Amino-acid Change
NM_130810.4:c.123+95C>A (DNAAF4) MANE Select NP_570722.2:n.123+95C>A
ENST00000321149.7:c.123+95C>A (DNAAF4) MANE Select ENSP00000323275.3:n.123+95C>A
NM_001033559.2:c.123+95C>A (DNAAF4) NP_001028731.1:n.123+95C>A
NM_001033559.3:c.123+95C>A (DNAAF4) NP_001028731.1:n.123+95C>A
NM_001033560.1:c.123+95C>A (DNAAF4) NP_001028732.1:n.123+95C>A
NM_001033560.2:c.123+95C>A (DNAAF4) NP_001028732.1:n.123+95C>A
NM_130810.3:c.123+95C>A (DNAAF4) NP_570722.2:n.123+95C>A
NR_037923.1:n.378+95C>A (DNAAF4-CCPG1)
ENST00000348518.4:c.123+95C>A (DNAAF4) ENSP00000299561.5:n.123+95C>A
ENST00000448430.6:c.123+95C>A (DNAAF4) ENSP00000403412.2:n.123+95C>A
ENST00000457155.6:c.123+95C>A (DNAAF4) ENSP00000402640.2:n.123+95C>A
ENST00000519017.1:n.138+95C>A (DNAAF4)
ENST00000522437.1:c.123+95C>A (DNAAF4) ENSP00000429219.1:n.123+95C>A
ENST00000524160.5:c.123+95C>A (DNAAF4) ENSP00000428097.1:n.123+95C>A
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